Canonical Allele Identifier: CA4980406
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1663927
ClinVar RCV Id: RCV002188758
dbSNP Id: rs376968366
ExAC: 9:6556314 A / G
gnomAD v2: 9-6556314-A-G
gnomAD v3: 9-6556314-A-G
gnomAD v4: 9-6556314-A-G
MyVariant Identifiers: chr9:g.6556314A>G (hg19) chr9:g.6556314A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556314A>G , CM000671.2:g.6556314A>G GRCh38
NC_000009.11:g.6556314A>G , CM000671.1:g.6556314A>G GRCh37
NC_000009.10:g.6546314A>G NCBI36
NG_016397.1:g.94379T>C , LRG_643:g.94379T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2053-12T>C MANE Select ENSP00000370737.4:n.2053-12T>C
ENST00000638233.1:n.488-12T>C
ENST00000638661.1:c.253-12T>C ENSP00000491369.1:n.253-12T>C
ENST00000638694.1:n.240-12T>C
ENST00000639318.1:c.253-12T>C ENSP00000491932.1:n.253-12T>C
ENST00000639364.1:n.1753-12T>C
ENST00000639443.1:n.1621-12T>C
ENST00000639954.1:n.1761-12T>C
ENST00000640505.1:n.292-12T>C
ENST00000321612.6:c.2053-12T>C ENSP00000370737.3:n.2053-12T>C
NM_000170.2:c.2053-12T>C , LRG_643t1:c.2053-12T>C NP_000161.2:n.2053-12T>C
NM_000170.3:c.2053-12T>C MANE Select NP_000161.2:n.2053-12T>C
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